Varaico: Literature-Extracted Genetic Variants

ABLIM3

60 papers

RefSeq Summary

This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein i...

Pfam Domains

LIMaa 23–78UCSCLIM domain

LIMaa 82–138UCSCLIM domain

LIMaa 151–206UCSCLIM domain

LIMaa 210–269UCSCLIM domain

AbLIM_anchoraa 273–405UCSCPutative adherens-junction anchoring region of AbLIM

AbLIM_anchoraa 273–633UCSCPutative adherens-junction anchoring region of AbLIM

Gene Aliases

HGNC Name

actin binding LIM protein family member 3

HGNC Alias Symbol

KIAA0843

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014945.5

p.V37E

c.110T>A

Surrounding Variants

1 paper

NM_014945.5

p.V37L

c.109G>C

1 paper

NM_014945.5

p.V37L

c.109G>T

1 paper

NM_014945.5

p.N39Y

c.115A>T

1 paper

NM_014945.5

p.N39T

c.116A>C

1 paper

NM_014945.5

p.V35delFs

c.103delG

1 paper

NM_014945.5

p.H41insFs

c.122_123insG

1 paper

NM_014945.5

p.F42insFs

c.125_126ins23

1 paper

NM_014945.5

p.C23delFs

c.68delG

1 paper

NM_014945.5

p.R15R

c.45G>A

1 paper

NM_014945.5

p.N13D

c.37A>G

1 paper

NM_014945.5

p.N10T

c.29A>C

1 paper

NM_014945.5

p.Q9delFs

c.27delG